Phenylketonuria

Phenylketonuria (PKU) chiitiko chisingawanzoitika mukati umo mwana anozvarwa asina kugona kunyatsoputsa amino acid inonzi phenylalanine.

Phenylketonuria (PKU) inogarwa nhaka, zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Vabereki vaviri vanofanirwa kupfuudza kopi isingashande yegene kuti mwana ave nemamiriro acho. Kana izvi zviri izvo, vana vavo vane mukana we1 mu4 wekukanganiswa.

Vacheche vane PKU vanoshaya enzyme inonzi phenylalanine hydroxylase. Izvo zvinodikanwa kuputsa iyo yakakosha amino acid phenylalanineine. Phenylalanine inowanikwa mune zvekudya zvine protein.

Pasina iyo enzyme, mazinga e phenylalanine anovaka mumuviri. Iyi buildup inogona kukuvadza iyo yepakati tsinga system uye kukonzera kukuvara kwehuropi.

Phenylalanine inoita basa mukugadzirwa kwemuviri we melanin. Iyo pigment inokonzeresa ganda uye bvudzi vara. Naizvozvo, vacheche vane chirwere vanowanzove neakareruka ganda, vhudzi, uye maziso kupfuura hama kana hanzvadzi dzisina chirwere.

Zvimwe zviratidzo zvinogona kusanganisira:

• Kunonoka kugona kwepfungwa uye kwehukama
• Saizi yemusoro yakanyanya kudiki pane zvakajairwa
• Kusanyanyisa
• Kufambisa kufamba kwemaoko kana makumbo
• Kuremara kwepfungwa
• Kufenda
• Kuputika kweganda
• Kudengenyeka

Kana PKU ikasarapwa, kana kana chikafu chine phenylalanine chikadyiwa, mweya, ganda, nzeve wakisi, uye weti inogona kuva ne "mousy" kana "musty" hwema. Kunhuhwirira uku kunokonzerwa nekuvakwa kwezvinhu zve phenylalanine mumuviri.

PKU inogona kuwanikwa nyore nyore nekuongororwa kweropa nyore. Nyika dzese muUnited States dzinoda kuongororwa kwePKU kwevacheche vese sechikamu chevacheche vanoongorora. Muedzo unowanzoitwa nekutora madonhwe mashoma eropa kubva kumwana mwana asati abva muchipatara.

Kana iyo bvunzo yekuongorora iri yakanaka, kumwe kuongorora kweropa uye weti kunodiwa kuti usimbise kuongororwa. Genetic kuyedza kunoitwawo.

PKU chirwere chinorapika. Kurapa kunosanganisira chikafu chakaderera kwazvo mu phenylalanine, kunyanya kana mwana achikura. Kudya kwacho kunofanirwa kunyatsoteedzerwa. Izvi zvinoda kutarisirwa padyo nachiremba akanyoreswa kana chiremba, uye kushandira pamwe kwemubereki nemwana. Avo vanoramba vachidya mukukura vane hutano hwakanaka hwepanyama uye hwepfungwa pane avo vasingagare pazviri. "Kudya kwehupenyu" hwave hunhu hwakawanda hunokurudzirwa nenyanzvi. Vakadzi vane PKU vanofanirwa kutevedzera chikafu vasati vabata uye panguva yese yepamuviri.

Kune huwandu hwakawanda hwe phenylalanine mumukaka, mazai, uye zvimwe zvekudya zvakajairika. Iyo inotapira yekugadzira NutraSweet (aspartame) zvakare ine phenylalanine. Chero zvigadzirwa zvine aspartame zvinofanirwa kudzivirirwa.

Kune akatiwandei mafomura akasarudzika akagadzirirwa vacheche vane PKU. Izvi zvinogona kushandiswa seprotein sosi yakanyanya kuderera mu phenylalanine uye yakaenzana kune yakasara yakakosha amino acids. Vana vakura nevakuru vanoshandisa fomura yakasiyana inopa mapuroteni muhuwandu hwavanoda. Vanhu vane PKU vanofanirwa kutora fomula zuva rega rehupenyu hwavo hwese.

Mhedzisiro yacho inotarisirwa kuve yakanaka kwazvo kana chikafu chikanyatsoteedzerwa, kutanga nguva pfupi mushure mekuzvarwa kwemwana. Kana kurapwa kukanonoka kana mamiriro akasara asina kurapwa, kukuvara kwehuropi kunoitika. Kushanda kwechikoro kunogona kunge kwakadzikama zvishoma.

Kana mapuroteni ane phenylalanine asina kudzivirirwa, PKU inogona kutungamira mukuremara kwepfungwa panopera gore rekutanga rehupenyu.

Kuremara kwepfungwa kwakanyanya kunoitika kana kusagadzikana kukasarapwa. ADHD (yekucherechedza-kushomeka kwehutano kusagadzikana) inoita kunge dambudziko rakajairika kune avo vasinganamatire kune yakaderera-phenylalanine kudya.

Fonera wako mupi wezvehutano kana mwana wako asina kuyedzwa nezvePKU. Izvi zvinonyanya kukosha kana chero munhu mumhuri yako aine chirwere.

Enzyme assay kana kuongororwa kwemajini kunogona kuona kana vabereki vakatakura geni rePKU. Chorionic villus sampling kana amniocentesis inogona kuitwa panguva yepamuviri kuyedza mwana asati aberekwa wePKU.

Izvo zvakakosha kuti vakadzi vane PKU vanonyatsoteedzera yakasimba-phenylalanine yekudya zvese vasati vaita nhumbu uye panguva yese yepamuviri. Kuvaka kwe phenylalanine kunokanganisa mwana ari kukura, kunyangwe kana mwana asina kugara nhaka chirwere chizere.

PKU; Neonatal phenylketonuria

• Phenylketonuria bvunzo
• Achangoberekwa kuongorora kuongorora

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Kumar V, Abbas AK, Aster JC. Genetic uye chirwere chevana. Mune: Kumar V, Abbas AK, Aster JC, eds. Robins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018: chits. 7.

Vockley J, Andersson HC, Antshel KM, et al; American College yeMedical Genetics uye Genomics Therapeutics Komiti. Phenylalanine hydroxylase kushomeka: kuongororwa uye manejimendi manejimendi. Genet Med. 2014; 16 (2): 188-200. PMID: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.